Kashima Katsunori, Yahata Tetsuro, Fujita Kazuyuki, Tanaka Kenichi
Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
J Reprod Med. 2013 Nov-Dec;58(11-12):491-6.
To assess whether the insulin receptor (INSR) gene contributes to genetic susceptibility to polycystic ovary syndrome (PCOS) in a Japanese population.
We ex-amined the frequency of the His 1058 C/T single nucleotide polymorphism (SNP) found in exon 17 of the INSR gene in 61 Japanese PCOS patients and 99 Japanese healthy controls. In addition, we analyzed the association between the genotype of this SNP and the clinical phenotypes.
The frequency of the C/C genotype was not significantly different between all PCOS patients (47.5%) and controls (35.4%). However, among the lean cases (body mass index < or = 20 kg/m2) the frequency of the C/C genotype was significantly increased (p < 0.05) in PCOS patients (65.0%) as compared with controls (36.6%).
We concluded that the His 1058 C/T polymorphism at the tyrosine kinase domain of the INSR gene had a relationship to the pathogenesis of lean PCOS patients in a Japanese population.
评估胰岛素受体（INSR）基因是否与日本人群多囊卵巢综合征（PCOS）的遗传易感性有关。
我们检测了61例日本PCOS患者和99例日本健康对照者中INSR基因第17外显子上His 1058 C/T单核苷酸多态性（SNP）的频率。此外，我们分析了该SNP的基因型与临床表型之间的关联。
所有PCOS患者（47.5%）和对照者（35.4%）中C/C基因型的频率无显著差异。然而，在瘦型病例（体重指数≤20 kg/m²）中，PCOS患者（65.0%）的C/C基因型频率与对照者（36.6%）相比显著增加（p<0.05）。
我们得出结论，INSR基因酪氨酸激酶结构域的His 1058 C/T多态性与日本人群中瘦型PCOS患者的发病机制有关。
